Variant report

Variant	rs730652
Chromosome Location	chr7:50746677-50746678
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50736808..50739059-chr7:50744973..50747020,2	K562	blood:
2	chr7:50723989..50725501-chr7:50744305..50746937,2	K562	blood:
3	chr7:50746261..50749281-chr7:50749955..50753325,3	K562	blood:
4	chr7:50535864..50536412-chr7:50746634..50747334,2	MCF-7	breast:
5	chr7:50535422..50536008-chr7:50746534..50747495,4	MCF-7	breast:
6	chr7:50682338..50683151-chr7:50746616..50747511,5	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11763072	0.86[YRI][hapmap]
rs13241205	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13243873	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800504	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074777	0.86[YRI][hapmap]
rs2214964	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237475	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237476	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237480	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237484	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237487	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237489	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240499	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2244351	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2244353	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2244372	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2244480	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2282931	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2529408	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529410	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2529412	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2715132	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7793570	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:50734200-50748800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:50736600-50755200	Weak transcription	NHDF-Ad	bronchial
8	chr7:50738800-50765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:50742000-50753000	Weak transcription	Osteobl	bone
10	chr7:50742200-50748200	Enhancers	Brain Anterior Caudate	brain
11	chr7:50742200-50749400	Weak transcription	Placenta	Placenta
12	chr7:50742200-50749400	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:50742200-50749800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:50742200-50758200	Weak transcription	Brain Germinal Matrix	brain
15	chr7:50742200-50765200	Weak transcription	NHLF	lung
16	chr7:50742400-50746800	Weak transcription	A549	lung
17	chr7:50742400-50747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:50742400-50747400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr7:50742400-50747600	Enhancers	Brain Substantia Nigra	brain
20	chr7:50742400-50753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:50742400-50755000	Weak transcription	Esophagus	oesophagus
22	chr7:50742400-50755000	Weak transcription	NH-A	brain
23	chr7:50742400-50755200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:50742600-50747400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:50742600-50748800	Weak transcription	Fetal Lung	lung
26	chr7:50742600-50749000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:50742600-50749000	Weak transcription	HUVEC	blood vessel
28	chr7:50742600-50749200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:50742600-50749400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:50742600-50757000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:50742600-50762200	Weak transcription	Hela-S3	cervix
32	chr7:50742600-50763000	Weak transcription	HSMM	muscle
33	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
34	chr7:50742800-50747400	Enhancers	Brain Angular Gyrus	brain
35	chr7:50742800-50748800	Weak transcription	Fetal Stomach	stomach
36	chr7:50742800-50749400	Weak transcription	Spleen	Spleen
37	chr7:50742800-50756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:50742800-50757600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:50743000-50746800	Enhancers	Pancreas	Pancrea
40	chr7:50743000-50750200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:50743000-50750200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr7:50743000-50755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:50743000-50755200	Weak transcription	K562	blood
44	chr7:50743000-50756400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:50743200-50748200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:50743200-50748800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:50743200-50749000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:50743200-50754600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:50743400-50753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:50743400-50754200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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